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1.
Article in English | MEDLINE | ID: mdl-39353787

ABSTRACT

INTRODUCTION: Colorectal adenocarcinoma is rare in children and adolescents and tends to present with nonspecific signs and symptoms, leading to late diagnoses. OBJECTIVES: Our aim was to describe the clinical presentation and progression in children and adolescents with colorectal adenocarcinoma treated at our hospital and detect possible predisposing conditions of this disease. MATERIALS AND METHODS: Eight patients with colorectal adenocarcinoma were followed at the Hospital Posadas within the time frame of January 2000 and December 2021. We searched for diseases predisposing to this cancer. RESULTS: The mean patient age was 16 years (between 11 and 17 years of age). Clinical presentation was abdominal pain in the 8 patients; 4 of them had pain in the right hypochondrium, 3 had abdominal tumor, 4 had rectal bleeding, and 3 had weight loss. Mean symptom duration was 9 weeks (range: 1-24 weeks). None of the patients showed predisposing illnesses. One patient presented with polyposis, with no cases in any other family member. Histology showed mucinous adenocarcinoma in all the patients, 4 of whom had the signet ring cell subtype. The primary tumor was located in the right colon in 6 patients. At diagnosis, staging according to the modified Dukes classification was: I: one patient; IIb: one patient; IIIb: one patient; IIIc: one patient; and IV: 4 patients. All patients except 2 received chemotherapy and one patient received radiotherapy. Overall survival at 3 years was 25%. CONCLUSIONS: All patients presented with mucinous adenocarcinoma, no predisposing diseases were found, and the children with colorectal cancer had a very poor prognosis. Colorectal cancer diagnosis should be considered in children presenting with acute abdominal pain, abdominal tumor, or lower gastrointestinal bleeding, especially if there is weight loss.

2.
J Pediatr Surg ; : 161953, 2024 Sep 21.
Article in English | MEDLINE | ID: mdl-39358080

ABSTRACT

BACKGROUND/PURPOSE: Studies have demonstrated existing racial and ethnic disparities in multiple aspects of pediatric oncology. The purpose of this study was to examine how racial and ethnic disparities in mortality among pediatric oncology patients have changed over time. We examined mortality by race and ethnicity over time within the Surveillance, Epidemiology, and End Results (SEER) registry. METHODS: Patients <20 years-old from 1975 to 2016 (n = 49,861) were selected for the analysis. Demographic characteristics, cancer diagnosis, and mortality data were extracted. Patients were divided by race and ethnicity: 1) non-Latino White, 2) Black, 3) Latino, and 4) Other Race. The interaction between race/ethnicity and decade was evaluated to better understand how disparities in mortality have changed over time. RESULTS: Unadjusted mortality among all cancers improved significantly, with 5-year mortality decreasing from the 1970s to the 2010s (log-rank: p < 0.001) for all race/ethnicity groups. However, improvements in mortality were not equal, with 5-year overall survival (OS) improving from 62.7 % in the 1970s to 87.5 % (Δ = 24.8 %) in the 2010s for White patients but only improving from 59.9 % to 80.8 % (Δ = 20.9 %) for Black patients (p < 0.01). The interaction between Race/Ethnicity and decade demonstrated that the Hazard Ratio (HR) for mortality worsened for Black [HR (95 % Confidence Interval): 1.10 (1.05-1.15) and Latino [1.11 (1.07-1.17)] patients compared to White, non-Latino patients. CONCLUSION: There has been a dramatic improvement in survival across pediatric oncology patients since 1975. However, the improvement has not been shared equally across racial/ethnic categories, with overall survival worsening over time for racial/ethnic minorities compared to White patients. LEVEL OF EVIDENCE: III.

3.
J Biomed Mater Res A ; 2024 Oct 02.
Article in English | MEDLINE | ID: mdl-39359103

ABSTRACT

Neuroblastoma (NB) is the most common pediatric extracranial solid tumor. High-risk NB is a subset of the disease that has poor prognosis and requires multimodal treatment regimens, with a 50% rate of recurrence despite intervention. There is a need for improved treatment strategies to reduce high-risk patient mortality. Dinutuximab is an anti-GD2 antibody ideal for targeting GD2 expressing NB cells, but binding of the antibody to peripheral nerve fibers leads to severe pain during systemic administration. Intratumoral delivery of the anti-GD2 antibody would allow for increased local antibody concentration, without increasing systemic toxicity. Chondroitin Sulfate (CS) is a biocompatible glycosaminoglycan that can be methacrylated to form CSMA, a photocrosslinkable hydrogel that can be loaded with therapeutic agents. The methacrylation reaction time can be varied to achieve different degrees of substitution, resulting in different release and degradation profiles. In this work, 4 and 24 h reacted CSMA was used to create hydrogels at 10% and 20% CSMA. Sustained in vitro release of dinutuximab from these formulations was observed over a 24-day period, and 4 h reacted 10% CSMA hydrogels had the highest overall dinutuximab release over time. An orthotropic mouse model was used to evaluate in vivo response to dinutuximab loaded 4 h methacrylated 10% CSMA hydrogels as compared to bolus tail vein injections. Tumor growth was monitored, and there was a statistically significant increase in the days to reach specific tumor size for tumors treated with intratumoral dinutuximab-loaded hydrogel compared to those treated with dinutuximab solution through tail vein injection. This supports the concept that locally delivering dinutuximab within the hydrogel formulation slowed tumor growth. The CSMA hydrogel-only treatment slowed tumor growth as well, an interesting effect that may indicate interactions between the CSMA and cell adhesion molecules in the tumor microenvironment. These findings demonstrate a potential avenue for local sustained delivery of dinutuximab for improved anti-tumoral response in high-risk NB.

4.
Expert Rev Anticancer Ther ; : 1-13, 2024 Oct 09.
Article in English | MEDLINE | ID: mdl-39381913

ABSTRACT

INTRODUCTION: Childhood cancers as a group affect around 1 in 500 children but each individual diagnosis is a rare disease. While research largely focuses on improving cure rates, the management of side effects of treatment are high priority for clinicians, families and children and young people. AREAS COVERED: The prevention and efficient management of infectious complications, oral mucositis, nausea and vomiting and graft-vs-host disease illustrated with examples of implementation research, translation of engineering to care, advances in statistical methodologies, and traditional bench-to-patient development. The reviews draw from existing systematic reviews and well conducted clinical practice guidelines. EXPERT OPINION: The four areas are driven from patient and family priorities. Some of the problems outlined are ready for proven interventions, others require us to develop new technologies. Advancement needs us to make the best use of new methods of applied health research and clinical trial methodologies. Some of the greatest challenges may be those we're not fully aware of, as new therapies move from their use in adult oncological practice into children. This will need us to continue our collaborative, multi-professional, multi-disciplinary and eclectic approach.

5.
JMIR Pediatr Parent ; 7: e58101, 2024 Oct 01.
Article in English | MEDLINE | ID: mdl-39352720

ABSTRACT

Background: The substantial increase in smartphone ownership has led to a rise in mobile health (mHealth) app use. Developing tailored features through mHealth apps creates a pathway to address the health care needs of pediatric patients with cancer and their families who have complex care needs. However, few apps are designed specifically to integrate with pediatric cancer care. Objective: This study reports a systematic search and analysis of mHealth apps available on the Apple App (iOS) and Google Play (Android) stores designed for pediatric cancer through a list of features that serve (1) patients, (2) caregivers, or (3) both audiences. Methods: Following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, we reviewed apps for pediatric patients with cancer and caregivers available as of January 30, 2024. We searched the Apple App and Google Play stores with a list of keyword combinations focusing on pediatric cancer care. The inclusion criteria were (1) specifically apps targeted toward pediatric patients with cancer, their families, or both; (2) available in either app store; and (3) available in English. Apps were assessed using the Mobile Application Rating Scale (MARS). The MARS is a quality assessment for mHealth apps, including components of engagement, functionality, aesthetics, and informational quality (5-point Likert scale items-1: low and 5: high quality). Results: In total, 22 apps were identified and 17 of those apps were available on both platforms. The most popular features (n=12) were resource sharing, symptom tracking, reminders, care team connections, journaling, community support, medication tracking, data visualizations, and appointment tracking. Features and interfaces were designed for caregivers (n=9) more frequently than the patients (n=7) while a subset of apps created options for both users (n=6). A total of 16 apps received positive reviews (mean 4.4, SD 0.59; Min=3.1, Max=5.0). A small subset (n=3) achieved over 5000 downloads; however, the majority (n=15) had fewer than 500. More than half (n=12) of the apps were not available in English. Apps requested access to a range of device functionalities to operate (mean 2.72, SD 3.13; Min=0, Max=10). Out of 22, a total of 17 apps were publicly accessible. The mean MARS scores for the apps ranged from 1.71 (SD 0.75) to 4.33 (SD 0.82). Overall, apps scored high on functionality (mean 3.72, SD 0.54) but low on engagement (mean 3.02, SD 0.93). Conclusions: Our review highlights the promising yet underdeveloped potential of mHealth apps in pediatric oncology care, underscoring the need for more inclusive, comprehensive, and integrative digital health solutions. Future developments should actively involve key stakeholders from the pediatric oncology community, including patients, families, and health care professionals, to ensure the apps meet specific needs while addressing linguistic and cultural barriers.

6.
J Pediatr Surg ; : 161954, 2024 Sep 21.
Article in English | MEDLINE | ID: mdl-39379183

ABSTRACT

BACKGROUND: Neuroblastoma is a highly lethal malignancy of young children. Mesenchymal stromal cells (MSCs) may represent a novel cellular delivery vehicle due to their innate tumor-homing properties. We compared in vivo homing abilities of placental-derived MSCs (PMSCs) and bone marrow-derived MSCs (BM-MSCs) in an orthotopic neuroblastoma xenograft. METHODS: 28 mice underwent direct implantation of neuroblastoma cells (cell line NB1643) into the adrenal gland followed by intraperitoneal injection of 5 × 106 MSCs (PMSC n = 13, BM-MSC n = 13, PBS controls n = 2). MSC migration was monitored with in vivo imaging system (IVIS) radiance measurements at multiple timepoints post-MSC injection. Necropsy timepoints were 72 h (n = 10) and 7 days (n = 16). Ex vivo imaging was performed on all adrenal masses and select organ tissues. Immunohistochemistry (IHC) assessed the presence of MSCs in tumors. RESULTS: IVIS demonstrated initial diffuse signal that migrated to the left abdomen. Radiance decreased over time, but MSC signal persisted at day 7 in all animals. Ex vivo IVIS demonstrated signal in the adrenal tumor but not other organs. There was no significant difference in average ex vivo adrenal mass radiance between MSC groups (p = 0.74). IHC confirmed presence of both MSC types within the tumor. CONCLUSION: PMSCs and BM-MSCs successfully migrated to neuroblastoma tumor tissues in vivo without evidence of migration to other organs. MSCs migrate within 72 h and persisted within the tumor up to 7 days. There was no significant difference in homing capabilities of PMSCs compared to BM-MSCs, indicating that either cell type has potential as a drug delivery vehicle. TYPE OF STUDY: Original Research. LEVEL OF EVIDENCE: n/a.

7.
BMC Health Serv Res ; 24(1): 1165, 2024 Oct 02.
Article in English | MEDLINE | ID: mdl-39358740

ABSTRACT

BACKGROUND: Compassion is a crucial aspect in the management of pediatric oncology patients as it has the potential to enhance nurse satisfaction levels, thereby further enhancing the quality and safety of the care they deliver. This study aimed to investigate nurses' understanding and experience of compassionate care when working in pediatric oncology departments. METHODS: This research utilized a qualitative descriptive design. Content analysis was used to make sense of data collected via individual and semi-structured interviews conducted with nurses (n = 32) working in pediatric oncology departments. RESULTS: Nurses' understanding of compassionate care for children with cancer was organized into two categories: Humanistic compassionate care and compassionate end-of-life care. The humanistic compassionate care category comprised of three subcategories: (1) empathy, (2) altruism, and (3) respect for the cultural values and beliefs of the family. The compassionate end-of-life care category comprised of two subcategories: (1) facilitating parents' presence at the child's bedside and (2) creating suitable conditions for accepting the death of a child. CONCLUSION: Compassionate care for children with cancer is marked by a strong emphasis on humanistic, cultural, and end-of-life considerations. Our findings further emphasize the paramount importance of taking families' presence, wishes and beliefs into consideration within this context.


Subject(s)
Attitude of Health Personnel , Empathy , Interviews as Topic , Oncology Nursing , Qualitative Research , Terminal Care , Humans , Female , Male , Adult , Terminal Care/psychology , Child , Neoplasms/psychology , Neoplasms/nursing , Neoplasms/therapy , Pediatric Nursing , Middle Aged , Nurse-Patient Relations
8.
Cureus ; 16(8): e68239, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39347241

ABSTRACT

A three-year-four-month-old boy with primary disseminated medulloblastoma M3 stage and secondary occlusive hydrocephalus underwent an endoscopic triventriculocisternostomy (ETVC) and tumor biopsy, followed by ventriculoperitoneal shunt (VPS) placement due to ETVC failure. The treatment regimen, which included intensive induction chemotherapy, proton beam therapy (PBT), and maintenance chemotherapy, led to significant clinical improvement and a complete radiological response. Four years post-treatment, the child remains in remission, illustrating the effectiveness of a multimodal approach in managing complex cases of medulloblastoma in pediatric patients.

9.
J Pediatr Nurs ; 79: 205-212, 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39293202

ABSTRACT

OBJECTIVES: Recent technological advancements offer tools for pediatric oncology care, but their integration into clnical practice is still under research. This study aimed to explore pediatric oncology nurses' perspectives on integrating technology-based interventions into care. METHODS: A descriptive phenomenological qualitative study was conducted with 13 pediatric oncology nurses. The focus groups were led by the research members, and each group included four to five participants. Nurses were asked to discuss their perceptions of the technology-based intervention, the type of technology used in the clinic, and the advantages and disadvantages of the technology. The focus groups were audio-recorded and professionally transcribed. The transcripts were analyzed thematically by two study team members using MAXQDA. The Consolidated Criteria for Reporting Qualitative Research were followed. RESULTS: The mean age of nurses was 38.46 ± 5.23 years and 92.3 % had more than 10 years of professional experience. As a result of the focus group interviews, three main themes and seven sub-themes were identified. These main themes included: (i) Need for competence and training for technology-based interventions, (ii) Effectiveness of technology-based interventions in pediatric patient care, and (iii) Challenges in integrating technology-based interventions into care. CONCLUSION: The study found that from the perspective of pediatric oncology nurses, technology-based interventions have multifaceted benefits and are effective in improving patient outcomes and care; however, nurses' limited ability to use technology-based interventions restricts them from integrating their care. IMPLICATIONS TO PRACTICE: It is recommended that nurses should be trained on technology-based interventions and the safe use of these interventions.

10.
Front Psychol ; 15: 1419192, 2024.
Article in English | MEDLINE | ID: mdl-39295755

ABSTRACT

Background: Advances in pediatric oncology have significantly increased survival rates, yet have introduced challenges in managing long-term treatment side effects. This study process introduces an interdisciplinary clinical intervention program rooted in the family resilience framework, aimed at improving well-being across the cancer trajectory for children and their families, especially those in Canadian communities far from specialized oncology centers with limited access to resources. Methods: Employing an intervention mapping approach, this program collaboratively involves patients, families, professionals, and researchers. It aims to identify vulnerability factors, establish a logic model of change, and devise comprehensive strategies that include professional interventions alongside self-management tools. These strategies, tailored to address biopsychosocial and spiritual challenges, are adapted to the unique contexts of communities distant from specialized cancer treatment centers. A mixed-methods approach will evaluate program effectiveness. Expected results: Anticipated outcomes include the empowerment of families with self-management tools and professional support, designed to mitigate biopsychosocial and spiritual complications. By addressing the specific needs and limitations of these communities, the program strives to improve the overall health and well-being of both undergoing treatment and survivorship phases. Discussion: By focusing on comprehensive care that includes both professional interventions and self-management, this initiative marks a significant shift toward a holistic, family-centered approach in pediatric oncology care for remote communities. It underlines the necessity of accessible interventions that confront immediate and long-term challenges, aiming to elevate the standard of care by emphasizing resilience, professional support, and family empowerment in underserved areas.

11.
Neurooncol Pract ; 11(5): 583-592, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39279771

ABSTRACT

Background: Despite high long-term survival rates, pediatric low-grade gliomas (pLGGs) are linked with significant tumor- and treatment-associated morbidities that may persist throughout life. The aims of this descriptive cross-sectional pilot study were to characterize health conditions among a cohort of patients with pLGG and explore the feasibility of quantifying disease burden and healthcare resource utilization (HRU). Methods: Optum® Market Clarity Data were used to identify patients aged ≤18 years with an ICD-10 code for brain neoplasm, ≥1 physician notes, and with evidence of pLGG recorded between January 1, 2017 and June 30, 2018. Outcomes including health characteristics, HRU, medications, and procedures were assessed at 6-month intervals over 36 months. Results: One hundred and fifty-four patients were identified with pLGG and over half experienced headache/migraine, respiratory infection, pain, or behavioral issues during the 36-month study period. The most common comorbidities were ocular/visual (including blindness), mental health disorders, seizures, and behavioral/cognition disorders. Most symptoms and comorbidities persisted or increased during the study period, indicating long-term health deficits. HRU, including speciality care visits, filled prescriptions, and administered medications, was common; 74% of patients had prescriptions for anti-infectives, 56% antiemetics, and 52% required pain or fever relief. Sixty-five percent of patients underwent treatment to control their pLGG, the most common being brain surgery. Little decline was observed in medication use during the study period. Conclusions: Patients with pLGG have complex healthcare needs requiring high HRU, often over a long time. Patients need to be optimally managed to minimize disease- and treatment-related burden and HRU.

12.
Pediatr Blood Cancer ; : e31326, 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39289855

ABSTRACT

BACKGROUND AND PURPOSE: The use of traditional and complementary medicine (T&CM) is common in children with cancer globally. We aimed to assess the prevalence, types, reasons, perceived effectiveness, and disclosure rate of T&CM use among children with cancer in Southern Egypt. We also investigated whether T&CM use contributed to delays in initial presentation and treatment. MATERIALS AND METHODS: A cross-sectional design was utilized. Data were collected via an interviewer-administered questionnaire. Eligible children and their caregivers at the South Egypt Cancer Institute were invited to participate. RESULTS: Eighty-six children completed the study (response rate = 86%). T&CM use was reported by 52 (60.5%) patients, with six (11.5%) experienced delayed presentation. The reasons for T&CM use were complementary for 37 (71%) and alternative for 15 (29%) of the participants. The types of T&CM used included herbal (63%), nutritional (33%), witchcraft (29%), and religious (19%) therapies. Approximately 48% of users employed multiple T&CM types. Family members recommended T&CM for 60% of the users. Most patients (65%) perceived T&CM as effective, with 71% initiating its use during the early phases of treatment. Almost all participants (98%) reported that healthcare providers did not inquire about T&CM use. T&CM usage was more prevalent among wealthier families (p = .023). There was no significant relationship between T&CM use and patient gender, diagnosis, residence, or paternal educational level. CONCLUSIONS: The significant utilization of T&CM among children with cancer highlights the need for healthcare providers to engage in open and early discussions with families regarding T&CM use.

13.
Sci Rep ; 14(1): 21435, 2024 09 13.
Article in English | MEDLINE | ID: mdl-39271738

ABSTRACT

Cancer predisposition syndromes are recognized in about 10% of pediatric malignancies with several genes specifically involved in a subset of pediatric tumors such as DICER1, in pleuropulmonary blastoma, cystic nephroma, and brain sarcomas. By contrast, the role of BRCA1/2 in pediatric cancer predisposition is still under investigation. We present two cases of young first-degree cousins, both carrying a germline BRCA2 variant and developing tumors characterized by somatic DICER1 mutations. Patient 1 presented with a cystic nephroma harboring a somatic DICER1 variant (p.Asp1810Tyr), while patient 2 had a primary intracranial DICER1-mutated sarcoma showing a distinct somatic DICER1 variant (p.Asp1709Glu) as well as biallelic inactivation of TP53 (p.Val173Leu, VAF 91%) and APC (p.Ile1307Lys, VAF 95%) and a pathogenic variant in KRAS (p.Gln61His). Both patients carried the same germline BRCA2 variant (p.Arg2842Cys) of unknown significance. The same variant was found in the mother of patient 2 and in the father of patient 1, who are siblings. A homologous recombination deficiency signature was not identified in any of the two tumors, possibly suggesting a reduction of BRCA2 activity. The association of BRCA2 and DICER1 variants in our cases hints at a potential cooperative role in cancer pathogenesis. Further studies are warranted to elucidate the interplay between BRCA1/2 and DICER1 variants and their implications for cancer predisposition and treatment in pediatric patients.


Subject(s)
BRCA2 Protein , DEAD-box RNA Helicases , Genetic Predisposition to Disease , Germ-Line Mutation , Ribonuclease III , Humans , DEAD-box RNA Helicases/genetics , Ribonuclease III/genetics , BRCA2 Protein/genetics , Female , Male , Pedigree , Child
14.
Int J Nurs Stud ; 160: 104891, 2024 Sep 03.
Article in English | MEDLINE | ID: mdl-39305679

ABSTRACT

BACKGROUND: Clinical nursing care is an essential element in pediatric oncology. The body of research interventions targeting pediatric oncology patients and their families has grown in recent years. However, no reviews are currently available on nursing interventions for pediatric oncology. AIM: The aim was to develop a comprehensive overview of the available nursing interventions for pediatric oncology patients and their families, outline the characteristics of the interventions, and identify any knowledge gaps. METHODS: This review was conducted in accordance with the JBI guidelines for scoping reviews. Citations were retrieved from the following databases: Scopus, PubMed, CINAHL, PsycINFO, and Embase. The following inclusion criteria were applied: peer-reviewed studies written in English, Danish, Norwegian, or Swedish from 2000 onward and reporting on pediatric patients with cancer and/or family members of a pediatric patient with cancer who received non-pharmacological and non-procedural nursing interventions provided by a pediatric oncology hospital service. Eligible studies were screened by title and abstract, and in full text by two independent reviewers. Critical appraisal was achieved using the Mixed Methods Appraisal Tool. FINDINGS: Among 2762 references, 26 studies met the inclusions criteria, comprising 25 unique nursing interventions. 89 % had been published from 2013 onward, reflecting the rapid changes occurring in pediatric oncology treatment. 36 % were qualitative, 58 % were quantitative and 8 % employed mixed methods. The studies were characterized by considerable diversity in terms of intervention content, components, timing of delivery, and delivery mode. 60 % of the interventions were targeted parents among whom mothers were highly overrepresented (75 %). 16 % adopted a family-centered focus. CONCLUSION: This review contributes to building a more comprehensive understanding of the evidence base within pediatric oncology nursing research. This field is evolving and holds the potential to support families with childhood cancer across various phases of their treatment trajectory. However, a clear need exists to develop and test interventions with a genuinely family-centered focus, targeting both patients and family members. A considerable gap exists in reporting of the intervention development process and intervention characteristics. Improving the reporting of intervention development is needed to enhance research quality and facilitate subsequent adaptation or upscaling of interventions for use in other populations and contexts. TWEETABLE ABSTRACT: Nursing interventions can support families with childhood cancer but future intervention studies need to enhance transparency in reporting @IJNSjournal.

15.
Cancers (Basel) ; 16(17)2024 Aug 23.
Article in English | MEDLINE | ID: mdl-39272793

ABSTRACT

Hi-C sequencing is a DNA-based next-generation sequencing method that preserves the 3D genome conformation and has shown promise in detecting genomic rearrangements in translational research studies. To evaluate Hi-C as a potential clinical diagnostic platform, analytical concordance with routine laboratory testing was assessed using primary pediatric leukemia and sarcoma specimens. Archived viable and non-viable frozen leukemic cells and formalin-fixed paraffin-embedded (FFPE) tumor specimens were analyzed. Pediatric acute myeloid leukemia (AML) and alveolar rhabdomyosarcoma (A-RMS) specimens with known genomic rearrangements were subjected to Hi-C to assess analytical concordance. Subsequently, a discovery cohort consisting of AML and acute lymphoblastic leukemia (ALL) cases without known genomic rearrangements based on prior clinical diagnostic testing was evaluated to determine whether Hi-C could detect rearrangements. Using a standard sequencing depth of 50 million raw read-pairs per sample, or approximately 5X raw genomic coverage, we observed 100% concordance between Hi-C and previous clinical cytogenetic and molecular testing. In the discovery cohort, a clinically relevant gene fusion was detected in 45% of leukemia cases (5/11). This study provides an institutional proof of principle evaluation of Hi-C sequencing to medical diagnostic testing as it identified several clinically relevant rearrangements, including those that were missed by current clinical testing workflows.

16.
J Pediatr Hematol Oncol Nurs ; : 27527530241267299, 2024 Sep 10.
Article in English | MEDLINE | ID: mdl-39257019

ABSTRACT

Background: Despite American Society of Clinical Oncology and Children's Oncology Group recommendations, the rate of sperm-banking for newly diagnosed adolescent and young adult males with cancer remains between 18% and 35%. The purpose of this study was to examine recent literature regarding decision-making and fertility preservation prior to the initiation of therapy for adolescents and young adults diagnosed with cancer. Method: A search of multiple online databases was undertaken for peer-reviewed studies between the years of 2010 and 2022. The databases CINAHL, PubMed, PsycInfo, Scopus, Google Scholar, and forward citation search was employed using the same Boolean search phrases in each database. Some 402 articles were then screened for relevance by title, abstract, and full review based on inclusion/exclusion criteria for synthesis. Results: Ten articles met criteria to be included in this review. Three themes were identified as impacting the decision to cryopreserve sperm prior to the initiation of therapy. Provider recommendation, parent recommendation, and referral for fertility specialist consult emerged as statistically significant factors in the decision to attempt sperm banking. Discussion: While the most significant factor impacting the decision to preserve fertility, parents reported they were more likely to recommend this to their child if they received clear recommendations from the medical team. Pediatric oncology physicians and nurses are in a unique position to positively impact quality of life and psychosocial outcomes in survivors of pediatric cancer by providing up-to-date evidence-based information, risk assessment, recommendations, and/or referral to fertility preservation specialists to families and patients.

17.
J Pediatr Hematol Oncol Nurs ; 41(4): 240-251, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39263727

ABSTRACT

Background: The end of treatment (EOT) is a significant time point along the childhood cancer treatment-survivorship continuum, and is recognized as a time when childhood cancer survivors (CCS) and their families experience significant vulnerability and stress. There is a call by families and healthcare professionals alike for standardized, comprehensive EOT services to successfully navigate through this transition period and better cope with posttreatment medical, physical, and social-emotional issues. Method: A multidisciplinary team of pediatric oncology health care professionals developed and implemented a two-session psychoeducational program to address these EOT needs. To evaluate the Shooting for the STARS (Survivors Tackling All Roadblocks Successfully) EOT Transition Program, a pretest-posttest repeated measures design was utilized. A convenience sample of 47 parents/caregivers and 29 CCS completed surveys before, during, and after the EOT services were received. Analysis of relationships and changes over time was conducted using Spearman-ranked correlations and Friedman tests, a nonparametric repeated measures analysis of variance. Results: All respondents reported program satisfaction, with 94.7% feeling somewhat or very prepared for ending treatment. Participants' distress levels tended to decrease over time. Parent/caregiver-reported levels of CCS' anxiety, fatigue, pain interference, and physical mobility significantly improved over the time period during which families participated in the Shooting for the STARS Program. Discussion: This nurse-led, evidence-based program was determined to be feasible and acceptable. It may contribute to improved health-related quality of life and decrease distress over time.


Subject(s)
Cancer Survivors , Humans , Cancer Survivors/psychology , Female , Male , Child , Adult , Adolescent , Neoplasms/therapy , Neoplasms/psychology , Caregivers/psychology , Family/psychology , Quality of Life/psychology
18.
J Cancer Educ ; 2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39235549

ABSTRACT

Childhood cancer in Africa faces significant challenges due to workforce shortages and limited training opportunities. The French African Group for Pediatric Oncology (GFAOP) established the African School of Pediatric Oncology and introduced a pediatric oncology teaching called the "Diplome Universitaire de Cancérologie Pédiatrique" (DUCP) training program. This report evaluates the contributions of the DUCP program to pediatric oncology in Africa and discusses the sustainability of the program. The DUCP program trained six cohorts of healthcare professionals from French-speaking African countries since 2014. An evaluation was done on the participant demographics and regional contributions. Data were collected from trainee records and DUCP records. The DUCP program was evaluated based on the domains developed by the Education Program Assessment Tool (EPAT). Over the 10-year period, the DUCP program trained 107 healthcare professionals from 20 Francophone countries of which 99% were retained in Africa. Of the 83 graduates, 55 (66%) actively practice in pediatric oncology. Of the 18 francophone countries, 17 countries increased the number of pediatric oncologists and 16 improved the ratio of pediatric oncologists to children under 15 years. Nine new pediatric oncology services were established by the graduates thus far. Despite challenges, such as the COVID-19 pandemic, the program remains sustainable because of continued financial support, collaborations with the international pediatric oncology community, and adapting the program content to participant and local setting needs. Retention of graduates in childhood cancer services remains a challenge that necessitates governmental involvement. The DUCP program is impactful and sustainable and improves access for children to cancer services in Africa. By fostering continued collaboration with governments, addressing the needs of an increasing African population, and expanding support for similar initiatives, the program's longevity and positive impact can be further ensured.

19.
Genet Med ; : 101250, 2024 Sep 04.
Article in English | MEDLINE | ID: mdl-39244644

ABSTRACT

PURPOSE: Germline DNA sequencing is increasingly used within pediatric oncology, yet parental experiences remain underexplored. METHODS: Parents of children undergoing cancer predisposition gene panel sequencing (143 genes) were surveyed before and after disclosure of results. Questionnaires assessed knowledge, expectations, worries, satisfaction, and regret. Next to descriptives, linear mixed models and generalized mixed models were utilized to explore factors associated with knowledge and worries. RESULTS: Out of 325 eligible families, 310 parents (176 mothers and 128 fathers of 188 families) completed all after-consent questionnaires whereas 260 parents (150 mothers and 110 fathers of 181 families) completed all after disclosure questionnaires. Most parents hoped their participation would benefit others, although individual hopes were also common. Sequencing-related worries were common, particularly concerning whether their child would get cancer again, cancer risks for family members and psychosocial implications of testing. Parental satisfaction after disclosure was high and regret scores were low. Lower education was associated with lower knowledge levels, whereas foreign-born parents were at increased risk of experiencing worries. CONCLUSION: Germline sequencing of children with cancer is generally well received by their parents. However, careful genetic counseling is essential to ensure that parents are adequately informed and supported throughout the process.

20.
J Investig Med High Impact Case Rep ; 12: 23247096241274510, 2024.
Article in English | MEDLINE | ID: mdl-39230157

ABSTRACT

Mediastinal mature cystic teratomas are rare benign germ cell tumors that predominantly affect children. Despite their low incidence, they present unique diagnostic and management challenges. Early recognition and appropriate surgical intervention are crucial for optimal outcomes. This case report aims to highlight the importance of prompt diagnosis and management of mediastinal mature cystic teratomas in pediatric patients. We present the case of a 10-year-old female patient who presented with persistent chest pain and dyspnea. Imaging studies, including a chest X-ray and contrast-enhanced chest CT scan, revealed a large, well-circumscribed anterior mediastinal mass with calcifications. The patient underwent a right thoracotomy, resulting in the excision of a 6 × 5 × 5 cm mature cystic teratoma. Histopathological examination confirmed the diagnosis. The patient had an uneventful recovery and was discharged in stable condition. Mediastinal mature cystic teratomas pose diagnostic challenges due to their nonspecific symptoms and heterogeneous imaging characteristics. Differential diagnosis includes other mediastinal masses containing fat and calcifications. Surgical excision is the preferred treatment, although complete removal can be challenging due to adhesions to neighboring structures. Close follow-up is necessary to monitor for recurrence and complications. Mediastinal mature cystic teratomas are rare tumors with variable clinical presentations. Early detection and surgical intervention are crucial for optimal outcomes. These tumors should be included in the list of differential diagnoses for mediastinal masses in pediatric patients.


Subject(s)
Mediastinal Neoplasms , Teratoma , Tomography, X-Ray Computed , Humans , Teratoma/surgery , Teratoma/diagnostic imaging , Teratoma/diagnosis , Teratoma/pathology , Female , Mediastinal Neoplasms/surgery , Mediastinal Neoplasms/pathology , Mediastinal Neoplasms/diagnosis , Mediastinal Neoplasms/diagnostic imaging , Child , Diagnosis, Differential , Thoracotomy , Chest Pain/etiology , Mediastinum/pathology , Mediastinum/diagnostic imaging , Mediastinum/surgery
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